| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | LOC126860055, GUSB (Q332* +3 more) | Single nucleotide variant (nonsense +1 more) | Mucopolysaccharidosis type 7 | |
| | | Deletion (inframe_deletion +1 more) | Mucopolysaccharidosis type 7 | |
Click to view in NCBI Gene